| http://purl.uniprot.org/citations/9211849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9211849 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9211849 | http://www.w3.org/2000/01/rdf-schema#comment | "Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278-amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.277.5323.228"xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.277.5323.228"xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Brown A."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Brown A."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Gu J."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Gu J."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Pavan W.J."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Pavan W.J."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Polymeropoulos M.H."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Polymeropoulos M.H."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Zhang D."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Zhang D."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Ohno K."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Ohno K."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Morris J.A."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Morris J.A."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Tagle D.A."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Tagle D.A."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Patterson M.C."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Patterson M.C."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Sturley S.L."xsd:string |
| http://purl.uniprot.org/citations/9211849 | http://purl.uniprot.org/core/author | "Sturley S.L."xsd:string |